Charlie F Rowlands

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Charlie F Rowlands, Huw B. Thomas, Jenny Lord et al. · Scientific Reports · 2021 · 63 citations · Full text

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

Andrew Waters, Timothy Brendler-Spaeth, Danielle Smith et al. · Nature Genetics · 2024 · 39 citations · Full text

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

Charlie F Rowlands, Algy Taylor, Gillian Rice et al. · The American Journal of Human Genetics · 2022 · 26 citations · Full text

High-resolution functional mapping of RAD51C by saturation genome editing

Rebeca Olvera-León, Fang Zhang, Victoria Offord et al. · Cell · 2024 · 26 citations · Full text

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

K Wood, Charlie F Rowlands, Huw B. Thomas et al. · PLoS ONE · 2020 · 25 citations · Full text